ATP2B2
ATPase plasma membrane Ca2+ transporting 2
Summary
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants357 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs14154 | 3:10,368,113 | G/C | upstream gene variant | — |
| rs4327369 | 3:10,370,486 | G/C | — | benign |
| rs767698970 | 3:10,370,507 | C/T | — | likely benign |
| rs547883677 | 3:10,370,522 | G/T | — | likely benign |
| rs150065117 | 3:10,370,576 | G/A | — | likely benign |
| rs758884069 | 3:10,370,591 | G/A | — | likely benign |
| rs201411918 | 3:10,370,621 | C/T | — | likely benign |
| rs377714027 | 3:10,370,624 | C/T | — | likely benign |
| rs1426967358 | 3:10,370,631 | G/A | — | uncertain significance |
| rs745609841 | 3:10,370,645 | C/T | — | likely benign |
| rs577047176 | 3:10,370,646 | G/A | — | uncertain significance |
| rs141356421 | 3:10,370,647 | C/T | — | likely benign |
| rs146846448 | 3:10,370,648 | G/A | — | likely benign |
| rs2470032975 | 3:10,370,667 | G/C | — | uncertain significance |
| rs1215036750 | 3:10,370,709 | C/T | — | uncertain significance |
| rs2470033938 | 3:10,370,758 | G/C | — | uncertain significance |
| rs143490373 | 3:10,370,792 | C/T | — | likely benign |
| rs373130153 | 3:10,370,800 | C/T | — | likely pathogenic |
| rs779884532 | 3:10,370,805 | C/T | — | uncertain significance |
| rs76606389 | 3:10,373,507 | A/G | — | benign |
| rs26801 | 3:10,377,650 | T/C | — | benign |
| rs2470086904 | 3:10,377,812 | C/T | — | uncertain significance |
| rs746796428 | 3:10,377,862 | C/A | — | uncertain significance |
| rs40336 | 3:10,379,603 | T/C | — | benign |
| rs4684040 | 3:10,379,623 | G/A | — | benign |
| rs1421474714 | 3:10,379,873 | C/T | — | uncertain significance |
| rs2125357775 | 3:10,379,886 | G/A | — | pathogenic |
| rs2125357897 | 3:10,379,918 | C/G | — | uncertain significance |
| rs2470105065 | 3:10,379,919 | G/C | — | uncertain significance |
| rs35678 | 3:10,379,923 | C/T | synonymous variant | benign |
| rs142799327 | 3:10,379,926 | G/A | — | benign |
| rs765812045 | 3:10,379,943 | C/T | — | uncertain significance |
| rs56272522 | 3:10,379,944 | G/A | — | likely benign |
| rs772535893 | 3:10,379,949 | C/T | — | uncertain significance |
| rs62640384 | 3:10,379,950 | G/A | — | likely benign |
| rs374011120 | 3:10,379,951 | T/C | — | uncertain significance |
| rs3846109 | 3:10,380,010 | C/T | — | benign |
| rs778841319 | 3:10,380,025 | C/T | — | likely benign |
| rs2470107413 | 3:10,380,056 | T/G | — | likely benign |
| rs28131 | 3:10,380,209 | T/C | — | benign |
| rs154243 | 3:10,381,784 | A/G | — | benign |
| rs774105140 | 3:10,381,935 | A/C | — | likely benign |
| rs149035567 | 3:10,381,937 | C/T | — | uncertain significance |
| rs2470122747 | 3:10,381,987 | A/G | — | uncertain significance |
| rs1320953291 | 3:10,382,006 | G/A | — | uncertain significance |
| rs371858275 | 3:10,382,047 | G/A | — | likely benign |
| rs171337 | 3:10,382,111 | T/C | — | benign |
| rs154242 | 3:10,382,148 | A/G | — | benign |
| rs372944722 | 3:10,382,169 | C/G | — | likely benign |
| rs778300525 | 3:10,382,223 | C/T | — | uncertain significance |
| rs758122334 | 3:10,382,233 | C/T | — | uncertain significance |
| rs760285222 | 3:10,382,247 | C/A | — | uncertain significance |
| rs769667950 | 3:10,382,255 | G/A | — | likely benign |
| rs2125369003 | 3:10,382,260 | T/C | — | uncertain significance |
| rs2470126264 | 3:10,382,266 | G/A | — | uncertain significance |
| rs759463804 | 3:10,382,279 | G/A | — | likely benign |
| rs61736453 | 3:10,382,288 | C/T | — | benign |
| rs2470126561 | 3:10,382,289 | T/C | — | uncertain significance |
| rs61736452 | 3:10,382,339 | C/T | — | benign |
| rs146069247 | 3:10,382,353 | C/T | — | conflicting classifications of pathogenicity |
| rs530163146 | 3:10,382,369 | G/A | — | benign |
| rs1363070884 | 3:10,382,386 | C/A | — | pathogenic |
| rs367782610 | 3:10,382,400 | G/A | — | likely benign |
| rs709640 | 3:10,382,537 | T/G | — | benign |
| rs709641 | 3:10,382,638 | A/G | — | benign |
| rs2075354 | 3:10,384,425 | G/A | — | benign |
| rs184203749 | 3:10,384,430 | G/A | — | uncertain significance |
| rs2125379156 | 3:10,384,433 | C/G | — | uncertain significance |
| rs2470146159 | 3:10,384,457 | T/A | — | uncertain significance |
| rs374714860 | 3:10,384,518 | C/T | — | likely benign |
| rs1179707919 | 3:10,384,519 | G/A | — | uncertain significance |
| rs1419635133 | 3:10,384,529 | G/A | — | uncertain significance |
| rs148560963 | 3:10,384,533 | G/A | — | benign |
| rs151087332 | 3:10,384,536 | C/T | — | likely benign |
| rs1559534482 | 3:10,384,537 | G/A | — | uncertain significance |
| rs2470147084 | 3:10,384,540 | T/C | — | uncertain significance |
| rs2470147341 | 3:10,384,556 | T/A | — | uncertain significance |
| rs368058047 | 3:10,384,561 | G/A | — | uncertain significance |
| rs1057520233 | 3:10,384,588 | G/A | — | conflicting classifications of pathogenicity |
| rs2125380296 | 3:10,384,642 | G/C | — | uncertain significance |
| rs41292841 | 3:10,384,655 | G/T | — | likely benign |
| rs199777846 | 3:10,384,658 | G/A | — | likely benign |
| rs697225 | 3:10,386,797 | C/T | — | benign |
| rs241509 | 3:10,387,059 | A/C | — | benign |
| rs150216690 | 3:10,387,060 | G/A | — | benign |
| rs566780843 | 3:10,387,082 | C/T | — | uncertain significance |
| rs767707953 | 3:10,387,083 | G/A | — | likely benign |
| rs2470168483 | 3:10,387,087 | G/T | — | uncertain significance |
| rs769527949 | 3:10,387,104 | G/T | — | likely benign |
| rs2470168715 | 3:10,387,109 | C/T | — | uncertain significance |
| rs762583223 | 3:10,387,112 | C/T | — | uncertain significance |
| rs145040618 | 3:10,387,113 | G/C | — | uncertain significance |
| rs767441645 | 3:10,387,161 | G/A | — | likely benign |
| rs778120026 | 3:10,387,187 | C/T | — | uncertain significance |
| rs199729964 | 3:10,387,206 | G/A | — | likely benign |
| rs2470169999 | 3:10,387,220 | T/A | — | uncertain significance |
| rs2470170066 | 3:10,387,226 | A/G | — | uncertain significance |
| rs199859941 | 3:10,387,242 | G/A | — | benign |
| rs1485572860 | 3:10,387,255 | A/T | — | uncertain significance |
| rs9835022 | 3:10,387,543 | T/C | — | benign |
Showing 100 of 357 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.